The KCNQ2 Cure Foundation is a non-profit 501(c)(3) organization dedicated to accelerating the development of treatments and a cure for [KCNQ2 encephalopathy](/diseases/kcnq2-encephalopathy), a severe developmental and epileptic encephalopathy caused by variants in the [KCNQ2](/entities/kcnq2) gene. Founded by parents of children with KCNQ2 variants, the foundation serves as the primary patient advocacy organization for the KCNQ2 community, funding research, supporting clinical trials, and connecting families with the scientific and medical communities.
Mission
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Overview
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The KCNQ2 Cure Foundation is a non-profit 501(c)(3) organization dedicated to accelerating the development of treatments and a cure for [KCNQ2 encephalopathy](/diseases/kcnq2-encephalopathy), a severe developmental and epileptic encephalopathy caused by variants in the [KCNQ2](/entities/kcnq2) gene. Founded by parents of children with KCNQ2 variants, the foundation serves as the primary patient advocacy organization for the KCNQ2 community, funding research, supporting clinical trials, and connecting families with the scientific and medical communities.
Mission
To drive the development of effective treatments and ultimately a cure for KCNQ2 encephalopathy by funding innovative research, facilitating clinical trials, providing family support, and advocating for regulatory policies that accelerate therapy development.
Key Activities
Research Funding
The foundation is the primary non-governmental funder of KCNQ2-specific research:
Research grants: Annual grant cycles supporting basic science, translational, and clinical research on KCNQ2 encephalopathy. Priority areas include gene therapy, ASO development, small molecule modulators, and biomarker identification.
Natural history study support: Funding and patient recruitment for KCNQ2 natural history registries that are critical for clinical trial design and regulatory submissions. The foundation has supported the RDCRN (Rare Disease Clinical Research Network) KCNQ2 cohort.
Preclinical consortium: Collaborative programs that share data, animal models, and resources across academic labs working on KCNQ2, including a KCNQ2 mouse model repository and iPSC bank.
Biomarker development: Support for development and validation of quantitative biomarkers including EEG patterns, electrophysiological measures, and genetic modifiers.
Clinical Trial Support
The foundation plays a critical role in connecting patients with clinical trials and therapy development:
Trial matching: Direct patient-to-trial referrals through the foundation's patient registry
Site identification: Working with companies to identify suitable clinical trial sites with KCNQ2 expertise
Patient education: Informing families about trial eligibility, risks, and expectations through webinars, conferences, and educational materials
Industry partnerships: Facilitating partnerships between academia and industry for KCNQ2 therapy development
Patient and Family Support
Family conference: Annual family conference bringing together patients, families, researchers, and industry representatives
Family support programs: Emergency funds, equipment assistance, and family connection programs
Registry: Patient registry with genetic data, clinical information, and longitudinal follow-up enabling research recruitment
Facebook community: Active online community connecting families for peer support and information sharing
Regulatory Advocacy
The foundation engages with regulatory agencies to advocate for patient-centered therapy development:
FDA engagement: Participating in FDA Patient-Focused Drug Development meetings and regulatory workshops
Orphan drug designation: Supporting companies seeking orphan drug designation and rare pediatric disease priority review vouchers
Accelerated approval pathways: Advocating for regulatory frameworks that enable faster access to transformative therapies based on natural history data
International harmonization: Working with international regulatory counterparts on harmonized approaches for rare epilepsy therapies
KCNQ2 Therapeutic Pipeline
The foundation has helped catalyze a growing therapeutic pipeline for KCNQ2 encephalopathy:
| Program | Type | Stage | Developer | |---------|------|-------|-----------| | AAV-KCNQ2 gene therapy | Gene replacement | Preclinical | Academic (Bhatt lab, UC Berkeley) | | KCNQ2 ASO | Splice modulation/NMD inhibition | Early discovery | Multiple groups | | KCNQ2 channel openers | Small molecule | Preclinical | Multiple pharma | | Ezogabine (retigabine) | Potassium channel opener | Off-label use | Various |
The foundation actively monitors and supports all programs in the pipeline.
Natural History Studies
RDCRN KCNQ2 Cohort
The foundation supports the primary natural history study for KCNQ2 encephalopathy:
Sponsor: Rare Disease Clinical Research Network (RDCRN)
Cohort: N=100+ patients with confirmed KCNQ2 variants
Endpoints: Seizure trajectory, developmental outcomes, EEG patterns, motor function
Status: Ongoing, recruitment open
Regulatory value: Natural history data used as external comparator for single-arm trial designs
Foundation-Sponsored Registry
The KCNQ2 Cure Foundation maintains its own patient registry:
N=400+ patients enrolled with confirmed KCNQ2 variants
Longitudinal follow-up: Annual updates on seizure burden, developmental milestones, and functional outcomes
Genetic data: Detailed variant information enabling genotype-phenotype correlations
Trial recruitment: Active matching of registry participants to clinical trials
Impact on Drug Development
The foundation's activities have directly impacted the KCNQ2 therapeutic landscape:
Catalyzed research funding: Foundation grants enabled academic groups to establish KCNQ2 mouse models and iPSC lines that have become the standard preclinical tools
Enabled clinical trial readiness: Patient registry and natural history studies provide the comparator data needed for regulatory submissions
Engaged pharmaceutical industry: Foundation outreach has led to multiple companies initiating KCNQ2 drug discovery programs
Standardized endpoints: Foundation-organized consensus meetings have established core outcome measures for clinical trials
Relationship with Industry
| Company | Program | Relationship | |---------|---------|--------------| | Academic groups (UC Berkeley, others) | AAV-KCNQ2 gene therapy | Research grants, preclinical collaboration | | Multiple pharma | KCNQ2 channel openers | Pipeline monitoring, trial site support | | Gene therapy companies | KCNQ2 gene therapy | Early engagement, feasibility discussions |
Related Organizations
International League Against Epilepsy (ILAE): Professional epilepsy organization
Epilepsy Foundation: Broader epilepsy advocacy
Rare Epilepsy Network (REN): RDCRN consortium for rare epilepsies
Dravet Syndrome Foundation: Related DEE advocacy organization
Cure STXBP1: STXBP1 encephalopathy advocacy
Loulou Foundation: CDKL5 deficiency advocacy
External Links
[KCNQ2 Cure Foundation](https://www.kcnq2.org)
[KCNQ2 Cure Foundation Research Page](https://www.kcnq2.org/research)